Publications by authors named "Silvia Ventresca"
Article Synopsis
- - Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by symptoms like intrauterine growth retardation, poor development after birth, a triangular face, and feeding issues, with diagnosis based on clinical features.
- - Genetic abnormalities are found in about 60% of SRS patients, primarily on chromosomes 7 or 11, while the cause remains unknown for around 40% of cases, termed idiopathic SRS.
- - A new genetic variant was identified in a child with severe growth issues linked to SRS, highlighting the effectiveness of targeted exome sequencing, and long-term growth hormone treatment was found to improve the child's height.
Reversible lesions involved in the splenium of corpus callosum (RESLES) are a rare clinic-radiological condition, whose pathogenesis could be related to infectious events (such as in mild encephalopathy with reversible splenial lesion-MERS), epilepsy or metabolic/electrolyte disorders. MERS is characterized by an acute mild encephalopathy associated with lesions in the splenium of corpus callosum on brain magnetic resonance imaging. Viral infections are commonly associated with this condition and type A influenza is the most common cause.
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